ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)

gnomAD frequency: 0.00001  dbSNP: rs779184954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696972 SCV000825558 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144536 SCV003832853 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing

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